Variant report

Variant	rs9950343
Chromosome Location	chr18:43632481-43632482
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:43631604..43634976-chr18:43639801..43643194,4	K562	blood:

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs11876373	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12607480	0.86[CHB][hapmap]
rs12953780	0.80[JPT][hapmap]
rs12963169	0.89[CEU][hapmap];0.86[CHB][hapmap];0.85[JPT][hapmap]
rs1791407	0.83[CHB][hapmap]
rs1791413	0.83[CHB][hapmap]
rs1791414	0.83[CHB][hapmap]
rs1866322	0.88[CEU][hapmap];0.86[CHB][hapmap];0.85[JPT][hapmap]
rs2578184	0.85[EUR][1000 genomes]
rs2578187	1.00[CEU][hapmap];0.81[CHB][hapmap];0.85[EUR][1000 genomes]
rs2578189	0.82[CHB][hapmap]
rs2578190	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2578193	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs28372325	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2852362	0.85[EUR][1000 genomes]
rs2852363	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs28524126	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2853801	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2853802	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs28689081	0.91[AFR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28805990	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs35122885	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs35657986	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3744992	0.86[CHB][hapmap]
rs4243278	0.86[CHB][hapmap]
rs4550555	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs474878	0.85[EUR][1000 genomes]
rs4890312	0.83[CHB][hapmap];0.82[ASN][1000 genomes]
rs4890313	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4890314	0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4890616	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4890617	1.00[CEU][hapmap];0.86[CHB][hapmap];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4890618	1.00[CEU][hapmap];0.87[CHB][hapmap];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4890619	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4890620	1.00[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4890624	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs58397883	0.98[ASN][1000 genomes]
rs60986007	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6507663	0.83[ASN][1000 genomes]
rs7226742	1.00[CEU][hapmap];0.96[CHB][hapmap];0.87[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7227301	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8083916	0.82[CHB][hapmap]
rs8085233	1.00[CEU][hapmap];0.87[CHB][hapmap];0.86[JPT][hapmap];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8085773	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs8096256	1.00[CEU][hapmap];0.96[CHB][hapmap];0.87[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9946543	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9946831	1.00[CEU][hapmap];0.91[CHB][hapmap];0.85[JPT][hapmap];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9952157	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9954534	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9956803	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9957804	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9958257	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9961163	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9964180	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9965365	0.88[CEU][hapmap];0.82[CHB][hapmap]
rs9966603	0.88[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1064882	chr18:43558343-43687674	Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv543693	chr18:43558343-43687674	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv1062024	chr18:43589516-43749410	Active TSS Strong transcription Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	nsv543694	chr18:43589516-43749410	Strong transcription Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:43608600-43651000	Weak transcription	Esophagus	oesophagus
2	chr18:43620200-43636000	Weak transcription	Lung	lung
3	chr18:43623400-43635000	Weak transcription	Primary hematopoietic stem cells	blood
4	chr18:43623400-43635000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr18:43623400-43635000	Weak transcription	Fetal Thymus	thymus
6	chr18:43623800-43634600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr18:43626400-43636000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr18:43626600-43635000	Weak transcription	Primary T helper cells fromperipheralblood	blood
9	chr18:43627200-43634200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr18:43627600-43635000	Weak transcription	Spleen	Spleen
11	chr18:43630800-43633600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
12	chr18:43631200-43636600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr18:43631400-43633000	Enhancers	HepG2	liver
14	chr18:43631400-43633200	Enhancers	HSMMtube	muscle
15	chr18:43631600-43632600	Enhancers	HMEC	breast
16	chr18:43631600-43632800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr18:43631600-43633000	Enhancers	NHDF-Ad	bronchial
18	chr18:43631600-43633200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr18:43631800-43632600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr18:43631800-43632600	Enhancers	Primary monocytes fromperipheralblood	blood
21	chr18:43631800-43632600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
22	chr18:43631800-43632600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr18:43631800-43632600	Enhancers	GM12878-XiMat	blood
24	chr18:43631800-43632800	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr18:43631800-43632800	Enhancers	Primary hematopoietic stem cells short term culture	blood
26	chr18:43631800-43632800	Enhancers	K562	blood
27	chr18:43631800-43632800	Enhancers	Monocytes-CD14+_RO01746	blood
28	chr18:43631800-43632800	Enhancers	NHLF	lung
29	chr18:43631800-43633000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr18:43631800-43633600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
31	chr18:43631800-43633800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr18:43631800-43634000	Enhancers	Primary T helper cells PMA-I stimulated	--
33	chr18:43632000-43632600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr18:43632000-43632600	Enhancers	NH-A	brain
35	chr18:43632000-43632600	Enhancers	NHEK	skin
36	chr18:43632000-43633600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr18:43632000-43634000	Enhancers	Primary neutrophils fromperipheralblood	blood
38	chr18:43632200-43633000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr18:43632200-43633000	Enhancers	Osteobl	bone
40	chr18:43632200-43633800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr18:43632200-43634000	Enhancers	Liver	Liver
42	chr18:43632200-43634600	Weak transcription	Primary T cells fromperipheralblood	blood
43	chr18:43632200-43634600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr18:43632200-43635200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr18:43632200-43635200	Weak transcription	Thymus	Thymus
46	chr18:43632200-43640400	Weak transcription	Fetal Intestine Small	intestine
47	chr18:43632400-43633600	Weak transcription	Fetal Kidney	kidney
48	chr18:43632400-43634800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
49	chr18:43632400-43634800	Weak transcription	Dnd41	blood
50	chr18:43632400-43635000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood

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